rs148698100

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	3	carrier of a Friedreich's ataxia allele
(G;G)	6	Friedreich's ataxia

Reference

GRCh38 38.1/141

Chromosome

9

Position

69053230

Gene

FXN

is a	snp
is	mentioned by
dbSNP	rs148698100
dbSNP (classic)	rs148698100
ClinGen	rs148698100
ebi	rs148698100
HLI	rs148698100
Exac	rs148698100
Gnomad	rs148698100
Varsome	rs148698100
LitVar	rs148698100
Map	rs148698100
PheGenI	rs148698100
Biobank	rs148698100
1000 genomes	rs148698100
hgdp	rs148698100
ensembl	rs148698100
geneview	rs148698100
scholar	rs148698100
google	rs148698100
pharmgkb	rs148698100
gwascentral	rs148698100
openSNP	rs148698100
23andMe	rs148698100
SNPshot	rs148698100
SNPdbe	rs148698100
MSV3d	rs148698100
GWAS Ctlg	rs148698100

Max Magnitude

6

rs148698100, also known as c.354 C>G or p.Y118X, is a mutation in the FXN gene on chromosome 9.

The minor allele of this SNP is associated with Friedreich's ataxia when inherited in two copies or as a compound heterozygote.

ClinVar
Risk	Rs148698100(G;G)
Alt	Rs148698100(G;G)
Reference	Rs148698100(C;C)
Significance	Pathogenic
Disease	Friedreich ataxia 1
Variation	info
Gene	FXN
CLNDBN	Friedreich ataxia 1
Reversed	0
HGVS	NC_000009.11:g.71668146C>G
CLNSRC
CLNACC

[PMID 9339708] Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene.